| First Author | Lynch ED | Year | 1997 |
| Journal | Science | Volume | 278 |
| Issue | 5341 | Pages | 1315-8 |
| PubMed ID | 9360932 | Mgi Jnum | J:44205 |
| Mgi Id | MGI:1099580 | Citation | Lynch ED, et al. (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous [see comments]. Science 278(5341):1315-8 |
| abstractText | The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in a large Costa Rican kindred was previously localized to chromosome 5q31 and named DFNA1. Deafness in the family is associated with a protein-truncating mutation in a human homolog of the Drosophila gene diaphanous. The truncation is caused by a single nucleotide substitution in a splice donor, leading to a four-base pair insertion in messenger RNA and a frameshift. The diaphanous protein is a profilin ligand and target of Rho that regulates polymerization of actin, the major component of the cytoskeleton of hair cells of the inner ear. |
